Description: Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA. RefSeq Summary (NM_014009): The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chrX:49,106,897-49,121,288 Size: 14,392 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chrX:49,107,795-49,114,962 Size: 7,168 Coding Exon Count: 11
ID:FOXP3_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein P3; AltName: Full=Scurfin; FUNCTION: Probable transcription factor. Plays a critical role in the control of immune response. SUBUNIT: Interacts with IKZF3. INTERACTION: Q9UKT9:IKZF3; NbExp=2; IntAct=EBI-983719, EBI-747204; SUBCELLULAR LOCATION: Nucleus (Potential). PTM: Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT1. DISEASE: Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset insulin- dependent diabetes mellitus, infections, secretory diarrhea, trombocytopenia, anemia and eczema. It is usually lethal in infancy. SIMILARITY: Contains 1 C2H2-type zinc finger. SIMILARITY: Contains 1 fork-head DNA-binding domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FOXP3ID44129chXp11.html"; WEB RESOURCE: Name=FOXP3base; Note=FOXP3 mutation db; URL="http://bioinf.uta.fi/FOXP3base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXP3"; WEB RESOURCE: Name=Wikipedia; Note=FOXP3 entry; URL="http://en.wikipedia.org/wiki/FOXP3";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FOXP3 CDC HuGE Published Literature: FOXP3 Positive Disease Associations: atopy
, diabetes, type 1 Related Studies:
atopy R W B Bottema , et al. Allergy 2009 Dec, X-chromosome Forkhead Box P3 polymorphisms associate with atopy in girls in three Dutch birth cohorts., Allergy 2009 Dec.
[PubMed 20028375]
Our most consistent finding was observed for sensitisation to egg and indoor allergens.
diabetes, type 1 Bassuny WM et al. 2003, A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfingene associated with type 1 diabetes., Immunogenetics. 2003 Jun;55(3):149-56.
[PubMed 12750858]
In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.
diabetes, type 1 Bassuny, W. M. et al. 2003, A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes., Immunogenetics. 2003 Jun;55(3):149-56.
[PubMed 12750858]
In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZS1
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0035035 histone acetyltransferase binding GO:0042803 protein homodimerization activity GO:0042826 histone deacetylase binding GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0051059 NF-kappaB binding GO:0051525 NFAT protein binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001782 B cell homeostasis GO:0001816 cytokine production GO:0002262 myeloid cell homeostasis GO:0002361 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation GO:0002362 CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment GO:0002456 T cell mediated immunity GO:0002507 tolerance induction GO:0002513 tolerance induction to self antigen GO:0002637 regulation of immunoglobulin production GO:0002666 positive regulation of T cell tolerance induction GO:0002667 regulation of T cell anergy GO:0002669 positive regulation of T cell anergy GO:0002677 negative regulation of chronic inflammatory response GO:0002725 negative regulation of T cell cytokine production GO:0002851 positive regulation of peripheral T cell tolerance induction GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0008285 negative regulation of cell proliferation GO:0009615 response to virus GO:0009653 anatomical structure morphogenesis GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0030111 regulation of Wnt signaling pathway GO:0031064 negative regulation of histone deacetylation GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0032689 negative regulation of interferon-gamma production GO:0032693 negative regulation of interleukin-10 production GO:0032700 negative regulation of interleukin-17 production GO:0032703 negative regulation of interleukin-2 production GO:0032713 negative regulation of interleukin-4 production GO:0032714 negative regulation of interleukin-5 production GO:0032715 negative regulation of interleukin-6 production GO:0032720 negative regulation of tumor necrosis factor production GO:0032753 positive regulation of interleukin-4 production GO:0032792 negative regulation of CREB transcription factor activity GO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation GO:0032914 positive regulation of transforming growth factor beta1 production GO:0033092 positive regulation of immature T cell proliferation in thymus GO:0035066 positive regulation of histone acetylation GO:0035067 negative regulation of histone acetylation GO:0042036 negative regulation of cytokine biosynthetic process GO:0042110 T cell activation GO:0042130 negative regulation of T cell proliferation GO:0043029 T cell homeostasis GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0045066 regulatory T cell differentiation GO:0045077 negative regulation of interferon-gamma biosynthetic process GO:0045085 negative regulation of interleukin-2 biosynthetic process GO:0045589 regulation of regulatory T cell differentiation GO:0045591 positive regulation of regulatory T cell differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046007 negative regulation of activated T cell proliferation GO:0048294 negative regulation of isotype switching to IgE isotypes GO:0048302 regulation of isotype switching to IgG isotypes GO:0050672 negative regulation of lymphocyte proliferation GO:0050710 negative regulation of cytokine secretion GO:0050728 negative regulation of inflammatory response GO:0050777 negative regulation of immune response GO:0050852 T cell receptor signaling pathway GO:2000320 negative regulation of T-helper 17 cell differentiation
LQ882884 - Sequence 33 from Patent WO2018160841. AF277993 - Homo sapiens scurfin (FOXP3) mRNA, complete cds. AK299988 - Homo sapiens cDNA FLJ56501 complete cds, highly similar to Forkhead box protein P3. AK292052 - Homo sapiens cDNA FLJ77236 complete cds, highly similar to Homo sapiens forkhead box P3 (FOXP3), mRNA. BC113401 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:141961 IMAGE:8322453), complete cds. BC113403 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:141963 IMAGE:8322455), complete cds. BC143785 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:177316 IMAGE:9052299), complete cds. BC143786 - Homo sapiens forkhead box P3, mRNA (cDNA clone MGC:177317 IMAGE:9052300), complete cds. BC111853 - Synthetic construct Homo sapiens clone IMAGE:40080849, MGC:133403 FOXP3 protein (FOXP3) mRNA, encodes complete protein. DQ010327 - Homo sapiens forkhead box P3 (FOXP3) mRNA, complete cds, alternatively spliced. EF534714 - Homo sapiens FOXP3 mRNA, complete cds. EU855812 - Homo sapiens FOXP3delta7 variant (FOXP3) mRNA, complete cds, alternatively spliced. AJ005891 - Homo sapiens mRNA for JM2 protein, complete CDS (clone LLNLc110K2140Q7 (RZPD Berlin)). HQ258232 - Synthetic construct Homo sapiens clone IMAGE:100072541 forkhead box P3 (FOXP3), transcript variant 1 (FOXP3) gene, encodes complete protein. KJ893767 - Synthetic construct Homo sapiens clone ccsbBroadEn_03161 FOXP3 gene, encodes complete protein. KR711581 - Synthetic construct Homo sapiens clone CCSBHm_00027193 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711582 - Synthetic construct Homo sapiens clone CCSBHm_00027195 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711583 - Synthetic construct Homo sapiens clone CCSBHm_00027196 FOXP3 (FOXP3) mRNA, encodes complete protein. KR711584 - Synthetic construct Homo sapiens clone CCSBHm_00027199 FOXP3 (FOXP3) mRNA, encodes complete protein. KR712214 - Synthetic construct Homo sapiens clone CCSBHm_00900167 FOXP3 (FOXP3) mRNA, encodes complete protein. AB463651 - Synthetic construct DNA, clone: pF1KB7200, Homo sapiens FOXP3 gene for forkhead box P3, without stop codon, in Flexi system. LQ927246 - Sequence 23 from Patent WO2018191660. MP584534 - Sequence 33 from Patent WO2020081767.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BZS1 (Reactome details) participates in the following event(s):
R-HSA-8877192 RUNX1 binds FOXP3 R-HSA-8877348 RUNX1, FOXP3 and NFATC2 bind the IL2 gene promoter R-HSA-8877369 RUNX1 and FOXP3 bind the IFNG gene R-HSA-8877391 FOXP3 in complex with RUNX1 binds intron 1 of the IL2RA (CD25) gene R-HSA-8877414 FOXP3 in complex with RUNX1 binds the CTLA4 gene promoter R-HSA-8877490 FOXP3 in complex with RUNX1 binds to the TNFRSF18 (GITR) gene intron 1 R-HSA-8877879 RUNX1 and FOXP3 bind the RSPO3 gene promoter R-HSA-8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
